"Athena Diagnostics"[submitter] AND "CACNA2D1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256767	NM_000722.4(CACNA2D1):c.3114C>T (p.Pro1038=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 416575	NM_000722.4(CACNA2D1):c.2837-7A>G	CACNA2D1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GBenign/Likely benign
Select item 238180	NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 518634	NM_000722.4(CACNA2D1):c.1956-12dup	CACNA2D1	Duplication (intron variant)	not provided +2 more	GBenign
Select item 416578	NM_000722.4(CACNA2D1):c.1956-4del	CACNA2D1	Deletion (intron variant)	Brugada syndrome +2 more	GBenign/Likely benign
Select item 695233	NM_000722.4(CACNA2D1):c.1735-8del	CACNA2D1	Deletion (intron variant)	Brugada syndrome +1 more	GBenign/Likely benign
Select item 238179	NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 381781	NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 263722	NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)	CACNA2D1 (K381E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 256769	NM_000722.4(CACNA2D1):c.963G>A (p.Ala321=)	CACNA2D1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 446965	NM_000722.4(CACNA2D1):c.879+9840A>T	CACNA2D1 (N307I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 585336	NM_000722.4(CACNA2D1):c.879+9833A>G	CACNA2D1 (I305V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance